Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906289
rs387906289
SMPD1
T 0.700 CausalMutation CLINVAR The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews. 26169695

2015
dbSNP: rs387906289
rs387906289
SMPD1
T 0.700 CausalMutation CLINVAR The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. 23535491

2013
dbSNP: rs387906289
rs387906289
SMPD1
T 0.700 CausalMutation CLINVAR Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients. 8401540

1993